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gsc-heading align-left style-1 small text-dark "> <h1 class="title"><span><span property="schema:name" class="field field--name-title field--type-string field--label-hidden">Medical Genetics Research</span> </span></h1> <div class="line"><span class="one"></span><span class="second"></span><span class="three"></span></div> </div> </div> </header> <div class="node__content clearfix"> </div> <div class="gavias-content-blockbuilder"><div class="gavias-blockbuilder-content"> <div class="gbb-row-wrapper"> <div class=" gbb-row bg-size-cover" style="" > <div class="bb-inner remove_padding_top"> <div class="bb-container container"> <div class="row"> <div class="row-wrapper clearfix"> <div class="gsc-column col-lg-12 col-md-12 col-sm-12 col-xs-12"> <div class="column-inner bg-size-cover " > <div class="column-content-inner"> <div class="widget gsc-image " > <div class="widget-content"> <img src="https://pediatrics.queensu.ca/sites/pediatrics/files/gbb-uploads/Untitled design (14)-abe1r5.png" alt="Medical Genetics Research" /> </div> </div> </div> </div> </div> <div class="gsc-column col-lg-12 col-md-12 col-sm-12 col-xs-12"> <div class="column-inner bg-size-cover " > <div class="column-content-inner"> <div class="column-content "><p class="p1"> </p> <p class="p1">Our faculty includes four medical geneticists: Drs. Lauren Badalato, Andrea Guerin, Alison Rusnak and Jagdeep Walia. In addition to providing clinical care for patients with genetic disorders, they conduct basic science and clinical research in pediatric and adult populations.</p> <p class="p3"><span class="s1">Dr. Walia’s</span><span class="s2"> gene therapy lab has attracted major research funding to study the development of novel therapeutics for genetic disorders. One of these is </span><span class="s3">GM2 gangliosidosis</span><span class="s2">is, a condition that destroys nerve cells in the brain and spinal cord. A clinical trial of gene </span><span class="s3">therapy for treating i</span><span class="s2">nfantile onset </span><span class="s3">GM2 gangliosidosis</span><span class="s1"> is now under way</span><span class="s2">, supported by funding from </span><span class="s3">Taysha Gene Therapies Inc. and GlycoNet.<span class="Apple-converted-space"> </span></span></p> <p class="p3"><span class="s3">Dr. Badalato is leading a chart review study t</span><span class="s2">o determine the clinical utility of routine genetic testing among adults with an intellectual disability. This work is supported by an internal grant from the Faculty of Health Sciences (Botterell, Howe and Powell funds). She is also a</span><span class="s3"> site investigator on several multi-centre genomic studies aimed at improving the diagnosis and care of patients with rare diseases (<a href="http://care4rare.ca/solve">Care4Rare Solve</a></span><span class="s2">;<span class="Apple-converted-space"> <a href="https://www.genomecanada.ca/en/beyond-genomics-assessing-improvement-diagnosis-rare-diseases-using-clinical-epigenomics-canada">EpiSign-CAN</a>) </span>and <a href="https://www.genomecanada.ca/en/silent-genomes-reducing-health-care-disparities-and-improving-diagnostic-success-indigenous-children">Silent Genomes</a>, a project whose goal is to<span class="Apple-converted-space"> </span>reduce health care disparities and improve diagnostic success for Indigenous children with genetic diseases.<span class="Apple-converted-space"> </span></span></p> <p class="p3">Other research activities include the following:</p> <ul class="ul1" style="list-style-type: square;"> <li class="li3">Examining genomic, epigenetic and metabolomic profiles of children with autism spectrum disorder<span class="Apple-converted-space"> </span></li> <li class="li3">Case reports of rare genetic presentations</li> </ul></div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="gbb-row-wrapper"> <div class=" gbb-row bg-size-cover" style="" > <div class="bb-inner remove_padding_top"> <div class="bb-container container"> <div class="row"> <div class="row-wrapper clearfix"> <div class="gsc-column col-lg-12 col-md-12 col-sm-12 col-xs-12"> <div class="column-inner bg-size-cover " > <div class="column-content-inner"> <div><div class="widget block gsc-block-view gsc-block-drupal block-view title-align-left text-dark remove-margin-off"><div class="views-element-container"><div class="team-grid-2 hide-filter gva-view view view-team view-id-team view-display-id-block_7 js-view-dom-id-f2b7c8caae250eac5f856bd8bbea2c3ac723d6bccc58234f13d1909450f35d96"> <div class="view-content"> <div> <nav 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href="mailto:medical.genetics@kingstonhsc.ca">medical.genetics@kingstonhsc.ca</a></div></div> </div> </span></div></div> <div class="col-lg-4 col-md-4 col-sm-4 col-xs-12 43 49 36"><div class="views-field views-field-nothing"><span class="field-content"><div class="portfolio-v2 isotope-item margin-bottom-40"> <div class="images"><a href="/guerin" target="_blank"><img src="/sites/pediatrics/files/styles/square/public/team/Andrea%20Guerin.jpg?itok=voctFvTw" alt=" Andrea Guerin"></a></div> <div class="content-inner"> <div class="title"><a href="/guerin"> Andrea Guerin</a></div><div class="category">Associate Professor </div> <div><a href=""></a></div><div><a href="mailto:medical.genetics@kingstonhsc.ca">medical.genetics@kingstonhsc.ca</a></div></div> </div> </span></div></div> <div class="col-lg-4 col-md-4 col-sm-4 col-xs-12 43 36"><div class="views-field views-field-nothing"><span class="field-content"><div class="portfolio-v2 isotope-item margin-bottom-40"> <div class="images"><a 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